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Gene : TBC1D24 Homo sapiens

Name  ? TBC1 domain family member 24 Cytological Location  16p13.3
Brief Description  TBC1 domain family member 24
description  This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group of GTPases, the Rab (Ras-related proteins in brain) small GTPases which are involved in the regulation of membrane trafficking. Mutations in this gene are associated with familial infantile myoclonic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]
  • synonyms:
  • TBC1 domain family, member 24,
  • FIME,
  • EIEE16,
  • DFNB86,
  • uc002cqk.4,
  • TLDC6,
  • skywalker homolog (Drosophila),
  • TLDC6,
  • OTTHUMG00000177150,
  • DOORS,
  • KIAA1171,
  • DFNA65,
  • HGNC:29203,
  • AB032997,
  • NM_020705,
  • deafness, autosomal recessive 86,
  • DFNA65,
  • TBC/LysM-associated domain containing 6,
  • DFNB86,
  • TBC1D24
  • identifiers:
  • 57465,
  • ENSG00000162065,
  • TBC1D24

Genome feature

Region: gene ? Length: 34566  
Location: 16:2475104-2509669 Cyto location: 16p13.3


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Disease

5 Diseases

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Other

349 SN Ps

5 Cross References

16 Data Sets

5 Homologues

0 Located Features

90 Rna Seq Results